A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7583



Internal ID15536281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175558456..175603172hg38UCSC Ensembl
Outerchr2:176423184..176467900hg19UCSC Ensembl
Outerchr2:176131430..176176146hg18UCSC Ensembl
Outerchr2:176248691..176293407hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3844717
hg1944717
hg1844717
hg1744717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3047
Supporting Variants
SamplesNA12156
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv7583
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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